Difference between renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions and clear cell renal cell carcinoma
-
摘要: 目的:从临床、影像、病理特点三方面比较Xp11.2易位/TFE3基因融合相关性肾癌 (Xp11.2易位性肾癌) 与肾透明细胞癌的差异性。方法:收集我院2010年1月~2015年12月经手术治疗的肾癌患者411例, 经病理证实Xp11.2易位性肾癌有12例, 肾透明细胞癌有302例, 就两组肾癌在临床、影像、病理特点进行分析。结果:Xp11.2易位性肾癌45岁以下 (83.3%) 常见, 发病年龄略低[Xp11.2易位性肾癌患者平均年龄 (33.1±18.4) 岁, 肾透明细胞癌患者平均年龄 (63.1±11.2) 岁], 女性高发 (66.7%), 肉眼血尿首诊占58.3%, 查体首诊占16.7%。肾透明细胞癌男性高发 (66.6%), 查体首诊占55.9%, 肉眼血尿首诊占19.5%。CT:Xp11.2易位性肾癌平扫密度稍增高, 易出现点状钙化和不均质改变。增强扫描肿瘤动脉期、静脉期和延迟期CT值分别为 (83.4±40.1) HU、 (95.8±39.1) HU和 (80.4±30.1) HU。肾透明细胞癌平扫等密度或混杂密度, 极少出现钙化, 增强扫描肿瘤动脉期、静脉期和延迟期CT值分别为 (133.4±37.1) HU、 (102.8±19.1) HU和 (87.4±29.1) HU。MRI扫描:Xp11.2易位性肾癌T1WI病灶等信号, T2WI低信号, 肾透明细胞癌T1WI病灶等或高信号, T2WI为不均匀混杂信号, 增强扫描均呈渐进式延迟强化。病理特点:Xp11.2易位性肾癌全部表达TFE3核蛋白, FISH检测可确诊, 肾透明细胞癌不表达TFE3, FISH阴性。两组肾癌患者术后随访12~72个月, 中位随访时间 (59.7±10.6) 个月。Xp11.2易位性肾癌术后发生转移者4例 (33.3%), 肾透明细胞癌患者23例 (7.6%) 。结论:Xp11.2易位性肾癌多见于伴有肉眼血尿的年轻女性, 增强CT表现为少进-慢出式强化, 肾透明细胞癌中老年男性高发, 多为查体发现, 增强CT表现为快进-快出式强化, MRI对两组肾癌的鉴别意义不大, 最终诊断依据FISH检测。Abstract: Objective:To compare the difference between renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 RCC) and clear cell renal cell carcinoma (CCRCC) in terms of clinical characters, imaging features and pathological traits.Method:From January 2010 to December 2015, 411 patients who were operated in Affiliated Hospital of Qingdao University were identified with renal carcinoma including 12 cases diagnosed as Xp11.2 RCC and 302 cases diagnosed as CCRCC.Clinical traits, imaging features and pathology characters were compared between the two groups.Result:Xp11.2 RCC often occurred in young patients[average age:Xp11.2 RCC (33.1±18.4);CCRCC (63.1±11.2) years old]whose clinical presentations were gross hematuria (58.3%) and examinations (16.7%) and below 45 years old (83.3%) whereas CCRCC often occurred in men patients (66.6%) whose clinical presentations were examination (55.9%) and gross hematuria (19.5%).CT of unenhanced scanning showed the lesions were slightly high density, and punctate calcifcations and heterogeneous changes can be easily seen in part of the Xp11.2 RCC.Enhanced scanning showed the CT number of the arterial, venous and balance phases were (83.4±40.1) HU, (95.8±39.1) HU and (80.4±30.1) HU.On the aspect of CCRCC, unenhanced scanning showed equal or mixed density, but calcifcation was rare.Enhanced scanning showed the CT number of the arterial, venous and balance phases were (133.4±37.1) HU, (102.8±19.1) HU and (87.4±29.1) HU.MRI scanning showed T1WI of the Xp11.2 RCC was mediate signal, and T2WI low signal.T1WI of CCRCC was mediate or high signal, and T2WI was uneven signal.Enhanced scanning showed progressive delayed enhancement in all patients.Immunohistochemical exam illustrated that all Xp11.2 RCC were positive for TFE3, and it was confirmed by FISH.However, no TFE3 was positive in CCRCC.Four patients (33.3%) were diagnosed as distant metastasis after 12 to 72 months (59.7±10.6) of follow-up period among Xp11.2 RCC.Twenty-three patients (7.6%) were diagnosed as distant metastasis among the CCRCC.Conclusion:Young women patients with hematuria usually occur in Xp11.2 RCC, and dynamic CT scanning shows low into-slow out strengthening.Elderly men with examination usually occur in CCRCC, and dynamic CT scanning shows fast into-fast out strengthening.Differential diagnosis depends on FISH rather than MRI.
-
Key words:
- Xp11.2 translocation /
- TFE3 gene fusion /
- clear cell renal cell carcinoma /
- difference
-
-
[1] 那彦群, 叶章群, 孙颖浩, 等.中国泌尿外科疾病诊断治疗指南[M].2014版.北京:人民卫生出版社, 2014:1-3.
[2] Qu Y, Gu C, Wang H, et al.Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays:clinicopathological data from ethnic Chinese population[J].Sci Rep, 2016, 6:21677.
[3] Eble J N, Sauter G, Epstein J I, et al.World Health Organization Classification of tumours.Pathology and genetics of tumors of the urinary system and male genital organs[M].Lyon:IARC Press, 2004:23-42.
[4] Cheng X, Gan W, Zhang G, et al.Clinical characteristics of XP11.2 translocation/TFE3 gene fusion renal cell carcinoma:a systematic review and meta-analysis of observational studies[J].BMC Urol, 2016, 16 (1):40.
[5] Kim S H, Kim C S, Kim M J, et al.Differentiation of Clear Cell Renal Cell Carcinoma From Other Subtypes and Fat-Poor Angiomyolipoma by Use of Quantitative Enhancement Measurement During Three-Phase MDCT[J].AJR Am J Roentgenol, 2016, 206 (1):W21-28.
[6] Argani P, Lal P, Hutchinson B, et al.Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions:a sensitive and specific immunohistochemical assay[J].Am J Surg Pathol, 2003, 27 (6):750-761.
[7] Klatte T, Streubel B, Wrba F, et al.Renal cell carcinoma associated with transcription factor E3 expression and Xp11.2 translocation:incidence, characteristics, and prognosis[J].Am J Clin Pathol, 2012, 137 (5):761-768.
[8] 邹泓, 庞丽娟, 胡文浩, 等.肾细胞癌的临床病理与免疫表型研究[J].中华病理学杂志, 2008, 37 (11):726-731.
[9] Klaassen Z, Tatem A, Burnette J O, et al.Adult Xp11 translocation associated renal cell carcinoma:time to recognize[J].Urology, 2012, 80 (5):965-968.
[10] Suzigan S, Drut R, Faria P, et al.Xp11 translocation carcinoma of the kidney presenting with multilocular cystic renal cell carcinoma-like features[J].Int J Surg Pathol, 2007, 15 (2):199-203.
[11] Malouf G G, Camparo P, Oudard S, et al.Targeted agents in metastatic Xp11 translocation/TFE3 gene fusion renal cell carcinoma (RCC):a report from the Juvenile RCC Network[J].Ann Oncol, 2010, 21 (9):1834-1838.
[12] Xu L, Yang R, Gan W, et al.Xp11.2 translocation renal cell carcinomas in young adults[J].BMC Urol, 2015, 15:57.
-
计量
- 文章访问数: 119
- PDF下载数: 197
- 施引文献: 0
下载: